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Changing listing position of "SBMA" according to alphabetical order. Addition of the disease's popular name. |
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* [[Hypohidrotic ectodermal dysplasia]], presenting with hypohidrosis, hypotrichosis, hypodontia
* [[Kabuki syndrome]] (the ''[[KDM6A]]'' variant); multiple congenital anomalies and intellectual disability.
* [[Spinal and bulbar muscular atrophy]]; muscle cramps and progressive weakness▼
* [[Lesch–Nyhan syndrome]]; neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation, and uric acid overproduction (hyperuricemia)
* [[Lowe syndrome]]; hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets
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* [[Siderius X-linked mental retardation syndrome]]; cleft lip and palate with intellectual disability and facial dysmorphism, caused by mutations in the histone demethylase [[PHF8]]
* [[Simpson–Golabi–Behmel syndrome]]; coarse faces with protruding jaw and tongue, widened nasal bridge, and upturned nasal tip
▲* [[Spinal and bulbar muscular atrophy]] (SBMA), also known as Kennedy's disease; muscle cramps and progressive weakness
* [[Spinal muscular atrophy]] caused by [[UBE1]] gene mutation; weakness due to loss of the motor neurons of the spinal cord and brainstem
* [[Wiskott–Aldrich syndrome]]; eczema, thrombocytopenia, immune deficiency, and bloody diarrhea
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